Perrault syndrome 5
MONDO:0014504Mondo
Findings
No curated finding names Perrault syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.
Definition from the Mondo Disease Ontology (MONDO:0014504), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating creatine kinase activityHPOHP:0003236
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TWNKHGNC:1160
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Perrault syndrome 5
- Also called
- Perrault syndrome caused by mutation in TWNKPerrault syndrome type 5TWNK Perrault syndrome